Details of patients' phenotypes and sequence changes in RSPH4A.
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Causative mutations are shown in bold; the remaining changes (in intron 5 and in 3′UTR) are newly described SNPs. s.i. – situs inversus; nNO – nasal NO (parts per billion), average from 3–4 measurements (ozone-chemiluminescence NO analyzer, GE Analytical Instruments); MT – microtubules; n.a. – not analyzed; ? – effect unknown, presumably neutral mutation; DSS – mutation in a conserved donor splice site; an asterisk indicates a family of Slovak origin.
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2015-12-02
